PMID- 28625614
OWN - NLM
STAT- MEDLINE
DCOM- 20170825
LR  - 20171214
IS  - 1096-0945 (Electronic)
IS  - 0014-4800 (Linking)
VI  - 103
IP  - 1
DP  - 2017 Aug
TI  - Characterization of an acquired jumping translocation involving 3q13.31-qter in a 
      patient with de novo acute monocytic leukemia.
PG  - 14-25
LID - S0014-4800(17)30073-4 [pii]
LID - 10.1016/j.yexmp.2017.06.002 [doi]
AB  - We studied an adult with de novo acute monocytic leukemia and a dismal outcome 
      where her leukemic cells harbored an acquired rare jumping translocation (JT). We 
      used oligo-based array CGH (oaCGH) analysis, fluorescence in situ hybridization 
      (FISH), and 24-color karyotyping to enhance the characterization of the JT. 
      G-banding detected a JT involving the 3q13.3-qter chromosomal segment and the 
      recipient chromosomal regions 17p, 8q, and 15q. Each clone with JT was associated 
      with trisomy 8. oaCGH analysis revealed an additional submicroscopic deletion in 
      3q13.31 as well as small subtelomeric duplications on several chromosomes. 
      Locus-specific FISH with BAC-based probes from the 3q13.31-q13.32 region showed 
      great heterogeneity. Telomere FISH revealed significantly reduced telomeric 
      content in the aberrant cells with JT compared with cytogenetically normal cells 
      at diagnosis and in normal cells at complete remission. A literature search 
      revealed two previous de novo AML-M5 cases of JT involving the 3q13.3-qter 
      chromosomal segment and concomitant trisomy 8. In addition, a case with an 
      unbalanced der(Y)t(Y;3)(q12;q13.31) and additional trisomy 8 was previously 
      reported in a patient with de novo AML-M5. All of these cases had a dismal 
      outcome. In the present case, and in the der(Y)t(Y;3) case, a concurrent 
      submicroscopic deletion at 3q13.31 was observed affecting the TUSC7 gene. 
      Duplication of 3q13.31-qter might be a non-random chromosomal abnormality with 
      concomitant submicroscopic deletion at 3q13.31 occurring in rare cases of acute 
      monocytic leukemia, being associated with adverse prognosis. The impact of 
      shortened telomeres in forming the JT is reviewed.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Kjeldsen, Eigil
AU  - Kjeldsen E
AD  - Cancercytogenetic Section, Hemodiagnostic Laboratory, Department of Hematology, 
      Center for Cancer and Inflammation, Aarhus University Hospital, Tage Hansens Gade 
      2, Ent. 4A, DK-8000 Aarhus C, Denmark. Electronic address: 
      Eigil.Kjeldsen@clin.au.dk.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170615
PL  - Netherlands
TA  - Exp Mol Pathol
JT  - Experimental and molecular pathology
JID - 0370711
RN  - Chromosome 8, trisomy
SB  - IM
MH  - Aged
MH  - Chromosome Deletion
MH  - Chromosome Duplication
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Cloning, Molecular
MH  - Comparative Genomic Hybridization
MH  - DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Monocytic, Acute/diagnosis/*genetics
MH  - Prognosis
MH  - *Translocation, Genetic
MH  - Trisomy/genetics
OTO - NOTNLM
OT  - Acute leukemia
OT  - Copy number
OT  - Del(3)(q13.31q13.31)
OT  - High-resolution aCGH
OT  - TUSC7
OT  - Telomere
OT  - Trisomy 8
EDAT- 2017/06/20 06:00
MHDA- 2017/08/26 06:00
CRDT- 2017/06/20 06:00
PHST- 2017/02/08 00:00 [received]
PHST- 2017/05/03 00:00 [revised]
PHST- 2017/06/13 00:00 [accepted]
PHST- 2017/06/20 06:00 [pubmed]
PHST- 2017/08/26 06:00 [medline]
PHST- 2017/06/20 06:00 [entrez]
AID - S0014-4800(17)30073-4 [pii]
AID - 10.1016/j.yexmp.2017.06.002 [doi]
PST - ppublish
SO  - Exp Mol Pathol. 2017 Aug;103(1):14-25. doi: 10.1016/j.yexmp.2017.06.002. Epub 
      2017 Jun 15.